Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36119840
rs36119840
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.700 GeneticVariation UNIPROT An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. 20208042

2010

dbSNP: rs36119840
rs36119840
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.700 GeneticVariation UNIPROT Mutations of the RET-GDNF signaling pathway in Ondine's curse. 9497256

1998